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Scientific Group", "given": "", "initials": ""}], "type": "journal article", "published": "2018-05-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "5", "pages": "766-767", "issn-l": "1061-4036"}, "abstract": "In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. 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"https://publications-affiliated.scilifelab.se/researcher/d30173f309c3460b80b698c8b89c5827.json"}}, {"family": "CHD Exome+ Consortium", "given": "", "initials": ""}, {"family": "EPIC-CVD Consortium", "given": "", "initials": ""}, {"family": "ExomeBP Consortium", "given": "", "initials": ""}, {"family": "Global Lipids Genetic Consortium", "given": "", "initials": ""}, {"family": "GoT2D Genes Consortium", "given": "", "initials": ""}, {"family": "EPIC\u00a0InterAct\u00a0Consortium", "given": "", "initials": ""}, {"family": "INTERVAL Study", "given": "", "initials": ""}, {"family": "ReproGen Consortium", "given": "", "initials": ""}, {"family": "T2D-Genes Consortium", "given": "", "initials": ""}, {"family": "MAGIC Investigators", "given": "", "initials": ""}, {"family": "Understanding Society Scientific Group", "given": "", "initials": ""}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Pospisilik", "given": "John A", "initials": "JA", "orcid": "0000-0002-9745-0977", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14d3d158e450498cb3900c4e4cab5c01.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/052747cd28af4c308b064e88005985a2.json"}}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d034d0cd32a84b959bd29f8ef8c91979.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Lettre", "given": "Guillaume", "initials": "G"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}], "type": "journal article", "published": "2018-01-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "1", "pages": "26-41", "issn-l": "1061-4036"}, "abstract": "Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.", "doi": "10.1038/s41588-017-0011-x", "pmid": "29273807", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS920811"}, {"db": "pmc", "key": "PMC5945951"}, {"db": "pii", "key": "10.1038/s41588-017-0011-x"}], "notes": [], "created": "2018-12-05T11:24:59.969Z", "modified": "2026-09-23T06:34:04.318Z"}]}